| 1 | ACADVL, VLCADD
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| Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening
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| D'Annibale OM, Koppes EA, Sethuraman M, Bloom K, Mohsen AW, Vockley J.
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| J Inherit Metab Dis. May;45(3):529-540. doi: 10.1002/jimd.12492. Epub 2022 Mar 11. 2022
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| 2 | ACADVL, VLCADD
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| The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).2018 PMID:
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| Hesse J, Braun C, Behringer S, Matysiak U, Spiekerkoetter U, Tucci S.
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| J Inherit Metab Dis. Nov;41(6):1169-1178. doi: 10.1007/s10545-018-0245-5. Epub 2018 Sep 7. 2018
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| 3 | ACADVL, VLCADD
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| Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
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| Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ.
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| Mol Genet Metab. Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2. 2015
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| 4 | ACADVL, VLCADD
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| Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.
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| Diekman EF, Ferdinandusse S, van der Pol L, Waterham HR, Ruiter JP, Ijlst L, Wanders RJ, Houten SM, Wijburg FA, Blank AC, Asselbergs FW, Houtkooper RH, Visser G.
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| Genet Med. Dec;17(12):989-94. doi: 10.1038/gim.2015.22. Epub 2015 Apr 2. 2015
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| 5 | ACADVL, VLCADD
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| Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance.
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| Xiong D, He H, James J, Tokunaga C, Powers C, Huang Y, Osinska H, Towbin JA, Purevjav E, Balschi JA, Javadov S, McGowan FX Jr, Strauss AW, Khuchua Z.
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| Am J Physiol Heart Circ Physiol. Feb;306(3):H326-38. doi: 10.1152/ajpheart.00931.2012. Epub 2013 Nov 27 2014
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| 6 | ACADVL, VLCADD
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| Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.
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| Schiff M, Mohsen AW, Karunanidhi A, McCracken E, Yeasted R, Vockley J.
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| Mol Genet Metab May;109(1):21-7. doi: 10.1016/j.ymgme.2013.02.002. Epub 2013 Feb 13. 2013
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| 7 | ACADVL, VLCADD
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| Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
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| Andresen BS, et al.
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| Am J Hum Genet 64(2):479-94. 1999
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| 8 | ACADVL, VLCADD
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| Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency.
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| He G, Yang BZ, Roe DS, Teramoto R, Aleck K, Grebe TA, Roe CR, Ding JH.
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| Biochem Biophys Res Commun 264(2):483-7 1999
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| 9 | ACADVL, VLCADD
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| Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.
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| Aoyama T, et al.
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| Am J Hum Genet 57 : 273-283. 1995
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